Which is worse? Knowing you have a disease or not knowing the disease you have?

When medical science is unable to diagnose what is wrong or can’t suggest a treatment, the results can be devastating to patients and families. That’s when Syndromes Without a Name (SWAN) springs into action.

SWAN, a national group, was started locally in 2008 by Texas State alumni Jennifer McKay of Austin and Heather Long of Cedar Park, who were joined by Texas State Assistant Professor Mary Elizabeth Parker of the Department of Physical Therapy. Their mission is to offer support to individuals and families dealing with the confusion that comes from dealing with undiagnosed medical issues.

McKay has personal experience with these issues. Her son, Jimmy, began displaying several distressing and inexplicable symptoms at three months of age. Despite all treatment, Jimmy died shortly after his first birthday. The cause of his sickness is still unknown.

Needing support, McKay began searching for support groups. She found little luck.

“While I was going through all of this, I was looking to various places for support,” said McKay. “But when you don’t have a diagnosis or fit into a box there is nowhere to turn.”

Until she found SWAN USA online.

“Finally, I had people to speak with experiencing somewhat similar things,” McKay said. “While Jimmy was still alive he was not well enough for me to begin a local group, but if I knew if one had already been around I would have loved to become a part.”

McCay became heavily involved, eventually joining the board of SWAN USA in 2008. Since then, she has focused her attention locally. The first meeting of SWAN took place of June 2008 and McKay said they have been growing ever since.

Long also had a hard road to SWAN. Her five-year-old son died of an undiagnosed condition after three years of fighting. Long said her frustration largely was with the medial establishment’s lack of urgency. She said she could remember doctors ticking off a list of afflictions from which he did not suffer.

“Until my experience with my son, I like so many other parents, took for granted that there was a diagnosis for every disease out there,” Long said. “I shared the common misconception that doctors knew how to treat and cure anything. The struggles my son endured opened my eyes so that I bear witness to the plight of the undiagnosed children as well as the inability of our health care system t help them.”

Long asked doctors if there was a way to look for other children who had a similar condition or a place to send her son’s medical records for research. Doctors told her no such database existed. This only motivated Long to do more.

“Since Cal’s death, I have contributed to research in his case in hopes of finding(s) that could plausibly explain what happened to him and hopefully use my knowledge to help others,” said Long. “I have also been working to ascertain how ‘undiagnosed’ cases are handled by doctors and preserved for research to help other undiagnosed cases.”

Parker believes the work SWAN is doing is vital.

“I didn’t know how needed we were until I got involved with SWAN,” said Parker. “I’m involved in networking with physicians around the country to get cases reviewed. The National Institute of Health started an undiagnosed study in 2008, so I’m keeping an eye on that.

Despite these larger efforts, SWAN still exists to provide support to families that have lost a loved one without a diagnosis. The group maintains a presence on the web at www.swan-austin.org to provide more information and meeting times. The local chapter meets once a month and also maintains a Yahoo Groups page, which is accessible from the website. Support is also available for fathers, those with diagnosis of rare conditions and members of the Spanish speaking population.

0 thoughts on “Syndromes Without a Name brings comfort to undiagnosed patients”

Just for clarification, we did not start SWAN USA, but are on the board. Also, the group is for those with undiagnosed children, not specifically for those that have lost children undiagnosed. We do include families that have lost children undiagnosed in our group though.

I’m suffering from this problem I ‘ve tow boys with undiagnosed disease I did a huge number of investigations but none could tell me whats wrong with these babies . It drives me crazy fighting gost sometimes they are suffering and I cannot do any thing for them they are 2years and half and one year and 3 months and they are sooooo cute . I feel so sad and hopeless please if you can offer any help do not hesitate